Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

Expanding the phenotype of sca19/22: parkinsonism, cognitive impairment and epilepsy

Abstract : BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide details of the cognitive profile in two SCA19/22 families. METHODS: Two families displaying an autosomal-dominant form of cerebellar ataxia underwent clinical examinations and genetic testing. RESULTS: In addition to the classical clinical features of SCA, a wide spectrum of cognitive disorders (including visuospatial impairments) was observed. Eight patients had mild Parkinsonism, and five had epilepsy. Genetic testing showed that the KCND3 mutation (c.679_681delTTC, p.F227del) was present in both families. CONCLUSIONS: Our findings broaden the phenotypic spectrum of SCA19/22, and suggest that KCND3 should be included in the list of candidate genes for epilepsy, Parkinsonism and cognitive impairment.
Type de document :
Article dans une revue
Liste complète des métadonnées

Littérature citée [38 références]  Voir  Masquer  Télécharger

https://hal.univ-lille.fr/hal-02467104
Contributeur : Lilloa Université de Lille <>
Soumis le : mercredi 12 février 2020 - 15:53:33
Dernière modification le : vendredi 18 septembre 2020 - 10:52:02
Archivage à long terme le : : mercredi 13 mai 2020 - 17:31:12

Fichier

New phenotype in SCA19-22.Auth...
Fichiers produits par l'(les) auteur(s)

Identifiants

Collections

Citation

Vincent Huin, Isabelle Strubi-Vuillaume, Kathy Dujardin, Marine Brion, Marie Delliaux, et al.. Expanding the phenotype of sca19/22: parkinsonism, cognitive impairment and epilepsy. Parkinsonism and Related Disorders, Elsevier, 2017, Parkinsonism & related disorders, 45, pp.85-89. ⟨10.1016/j.parkreldis.2017.09.014⟩. ⟨hal-02467104⟩

Partager

Métriques

Consultations de la notice

108

Téléchargements de fichiers

193